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Allele : Umod<Urehd1> uromodulin; urea phenotype

Primary Identifier  MGI:3712279 Allele Type  Chemically induced (ENU)
Attribute String  Dominant negative Gene  Umod
Inheritance Mode  Dominant Strain of Origin  C3HeB/FeJ
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: Uromodulin-Associated Kidney Disease in heterozygous and homozygous mice (J:201084)
molecularNote  ENU mutagenesis induced a G to T transversion in exon 3 at nt 470 (NM_009470), leading to an amino acid substitution of cysteine to phenylalanine at position 93 (C93F). Mutant protein levels are elevated in kidneys of heterozygous mice. This protein is predominantly the immature form.
  • mutations:
  • Single point mutation
  • synonyms:
  • Umod<C93F>,
  • Umod<C93F>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

7 Publication categories